Otoferlin

Otoferlin is a protein encoded by the OTOF gene in humans. It is a calcium-binding protein crucial for synaptic vesicle exocytosis at the inner hair cell ribbon synapse in the cochlea, which is essential for hearing. Specifically, otoferlin acts as a calcium sensor, triggering the release of neurotransmitter (glutamate) from the inner hair cells onto the auditory nerve fibers. This release of neurotransmitter is directly proportional to the intensity and frequency of the sound stimulus, thus transmitting the auditory information to the brain.

Mutations in the OTOF gene can cause autosomal recessive deafness, specifically DFNB9. This form of deafness is typically prelingual (present at birth or shortly thereafter) and non-syndromic, meaning it is not associated with other medical conditions. The severity of hearing loss associated with OTOF mutations varies, ranging from mild to profound.

Research into otoferlin and its role in hearing loss is ongoing, with potential avenues for therapeutic intervention being explored, including gene therapy and protein replacement strategies. Its specific function in the auditory pathway makes it a key target for understanding and potentially treating certain forms of genetic deafness.